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NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
May 30, 2019
Accession:
VCV001029283.1
Variation ID:
1029283
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)

Allele ID
1017026
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1894475 (GRCh38) GRCh38 UCSC
8: 1842641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.1894475A>G
NC_000008.10:g.1842641A>G
NM_014629.4:c.1343A>G MANE Select NP_055444.2:p.Glu448Gly missense
... more HGVS
Protein change
E410G, E473G, E448G
Other names
-
Canonical SPDI
NC_000008.11:1894474:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 30, 2019 RCV001330526.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARHGEF10 - - GRCh38
GRCh38
GRCh37
147 284

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 30, 2019)
criteria provided, single submitter
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: paternal
Baylor Genetics
Accession: SCV001522233.1
Submitted: (Feb 21, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Although defects in ARHGEF10 have not been fully established to … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Is the "flipped" pedagogical model the answer to the challenges of rural nursing education?: A discussion paper? Anolak H Nurse education today 2018 PMID: 29653320
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Beutler AS Annals of neurology 2014 PMID: 25164601
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. Høyer H BioMed research international 2014 PMID: 25025039

Record last updated Mar 28, 2021